A case of mucopolysaccharidosis type VI in a polish family. Importance of genetic testing and genotype-phenotype relationship in the diagnosis of mucopolysaccharidosis by Barbara Zapała, Olaf Chmura, Urszula Ciałowicz, Bogdan Solnica, Magdalena Krajewska-Włodarczyk, Zbigniew Żuber

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Niemann-Pick Type C disease: characterizing lipid levels in patients with variant lysosomal cholesterol storage[S] by Carolina Tängemo, Dominik Weber, Susanne Theiss, Eugen Mengel, Heiko Runz

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Computational approaches for predicting variant impact: An overview from resources, principles to applications by Ye Liu, William S. B. Yeung, William S. B. Yeung, Philip C. N. Chiu, Philip C. N. Chiu, Dandan Cao

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Predicting disease severity in metachromatic leukodystrophy using protein activity and a patient phenotype matrix by Marena Trinidad, Xinying Hong, Steven Froelich, Jessica Daiker, James Sacco, Hong Phuc Nguyen, Madelynn Campagna, Dean Suhr, Teryn Suhr, Jonathan H. LeBowitz, Michael H. Gelb, Wyatt T. Clark

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Analysis of clinical and genetic characteristics in 10 Chinese individuals with Cornelia de Lange syndrome and literature review by Chen Liu, Xiaoying Li, Jing Cui, Rui Dong, Yvqiang Lv, Dong Wang, Haiyan Zhang, Xiaomei Li, Zilong Li, Jian Ma, Yi Liu, Zhongtao Gai

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Polycyclic aromatic hydrocarbon (PAH) biodegradation capacity revealed by a genome-function relationship approach by Yue Huang, Liguan Li, Xiaole Yin, Tong Zhang

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Ecological genetics of freshwater fish: a short review of the genotype–phenotype connection by Vidal, O., García–Marín, J. L.

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Identifying genotype-phenotype relationships in biomedical text by Maryam Khordad, Robert E. Mercer

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Genetic and geographic influence on phenotypic variation in European sarcoidosis patients by Sandra Freitag-Wolf, Jonas C. Schupp, Jonas C. Schupp, Jonas C. Schupp, Björn C. Frye, Annegret Fischer, Raihanatul Anwar, Robert Kieszko, Violeta Mihailović-Vučinić, Janusz Milanowski, Dragana Jovanovic, Gernot Zissel, Elena Bargagli, Paola Rottoli, Dragos Bumbacea, René Jonkers, Ling-Pei Ho, Karoline I. Gaede, Anna Dubaniewicz, Ben G. Marshall, Andreas Günther, Martin Petrek, Michael P. Keane, Sigridur O. Haraldsdottir, Francesco Bonella, Christian Grah, Tatjana Peroš-Golubičić, Zamir Kadija, Stefan Pabst, Christian Grohé, János Strausz, Martina Safrankova, Ann Millar, Jiří Homolka, Wim A. Wuyts, Lisa G. Spencer, Michael Pfeifer, Dominique Valeyre, Venerino Poletti, Hubertus Wirtz, Antje Prasse, Antje Prasse, Stefan Schreiber, Stefan Schreiber, Astrid Dempfle, Joachim Müller-Quernheim

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Prediction of Antimicrobial Resistance in Gram-Negative Bacteria From Whole-Genome Sequencing Data by Pieter-Jan Van Camp, Pieter-Jan Van Camp, David B. Haslam, David B. Haslam, Aleksey Porollo, Aleksey Porollo, Aleksey Porollo

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Detecting Genotype-Population Interaction Effects by Ancestry Principal Components by Chenglong Yu, Chenglong Yu, Chenglong Yu, Guiyan Ni, Guiyan Ni, Guiyan Ni, Julius van der Werf, S. Hong Lee, S. Hong Lee

Subjects: “…genotype-phenotype relationship…”
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Genetic Mapping of Quantitative Trait Loci for Egg Production and Egg Quality Traits in Chickens: a Review by Tatsuhiko Goto, Masaoki Tsudzuki

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Inherited and multiple de novo mutations in autism/developmental delay risk genes suggest a multifactorial model by Hui Guo, Tianyun Wang, Huidan Wu, Min Long, Bradley P. Coe, Honghui Li, Guanglei Xun, Jianjun Ou, Biyuan Chen, Guiqin Duan, Ting Bai, Ningxia Zhao, Yidong Shen, Yun Li, Yazhe Wang, Yu Zhang, Carl Baker, Yanling Liu, Nan Pang, Lian Huang, Lin Han, Xiangbin Jia, Cenying Liu, Hailun Ni, Xinyi Yang, Lu Xia, Jingjing Chen, Lu Shen, Ying Li, Rongjuan Zhao, Wenjing Zhao, Jing Peng, Qian Pan, Zhigao Long, Wei Su, Jieqiong Tan, Xiaogang Du, Xiaoyan Ke, Meiling Yao, Zhengmao Hu, Xiaobing Zou, Jingping Zhao, Raphael A. Bernier, Evan E. Eichler, Kun Xia

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Evidence that increased Kcnj6 gene dose is necessary for deficits in behavior and dentate gyrus synaptic plasticity in the Ts65Dn mouse model of Down syndrome by Alexander M. Kleschevnikov, Jessica Yu, Jeesun Kim, Larisa V. Lysenko, Zheng Zeng, Y. Eugene Yu, William C. Mobley

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Modulation of biophysical properties of nucleocapsid protein in the mutant spectrum of SARS-CoV-2 by Ai Nguyen, Huaying Zhao, Dulguun Myagmarsuren, Sanjana Srinivasan, Di Wu, Jiji Chen, Grzegorz Piszczek, Peter Schuck

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Frameshift coding sequence variants in the LPL gene: identification of two novel events and exploration of the genotype–phenotype relationship for variants reported to date by Guofu Zhang, Yuepeng Hu, Qi Yang, Na Pu, Gang Li, Jingzhu Zhang, Zhihui Tong, Emmanuelle Masson, David N. Cooper, Jian-Min Chen, Weiqin Li

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Research progress on POMT1 gene variation in α-dystroglycanopathy by Shi Runqian, Xu Ying, Chang Yuanyuan, Zhang Jianfang

Subjects: “…congenital abnormality|walker-warburg syndrome|pomt1 gene|α-dystroglycanopathy|protein o-mannosyl-transferase|genotype-phenotype relationship…”
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Single-cell genomic and transcriptomic landscapes of primary and metastatic colorectal cancer tumors by Rui Wang, Jingyun Li, Xin Zhou, Yunuo Mao, Wendong Wang, Shuai Gao, Wei Wang, Yuan Gao, Kexuan Chen, Shuntai Yu, Xinglong Wu, Lu Wen, Hao Ge, Wei Fu, Fuchou Tang

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How mutations affect function by Thomas Kuhlman

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A challenging interplay between basic research, technologies and medical education to provide therapies based on disease mechanisms by Victoria I. Bunik, Victoria I. Bunik, Victoria I. Bunik

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